Molecular Analysis Core

分子分析核心

• 批准号: 6806301
• 负责人: Margaret A. Pericak-Vance
• 金额: $ 16.7万
• 依托单位: DUKE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-04-01 至 2009-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6806301
• 关键词: adolescence (12-20); blood tests; child (0-11); clinical research; family genetics; genetic mapping; genetic polymorphism; genetic registry /resource /referral center; high throughput technology; human genetic material tag; human subject; human tissue; molecular biology; molecular biology information system; molecular cloning; molecular genetics; nucleic acid sequence; patient oriented research; pediatrics; serotonin

This Core will be responsible for handling the large-scale genotyping. This Core will be responsible for all the high-throughput genotyping of candidate genes and genetic mapping. Mass Genotyping of individual DNA samples for mapping or association studies of candidate genes will primarily use the TaqMan assay in conjunction with the ABI Prism 700HT Sequence Detection System for single nucleotide polymorphisms (SNPs). In those cases (5-10%) where TaqMan does not work satisfactorily the TaqMan genotyping assay will be supplemented with the Oligonucleotide Ligation Assay (OLA). For high-density SNP frequency mapping of pooled patient samples we will use primer extension in conjunction with denaturing high performance liquid chromatography (DHPLC) detection. The PI's and investigators will identify the autism patients for biological sampling, DNA banking, and genotyping. The Projects, in consultation with this Core, will also determine which genes and SNPs are to be genotyped. In the case of new SNPs, genotype and allele frequency data will be databased and reported to the research community. For genes of particular interest, this Core will provide the necessary DNA sequencing. It will also be responsible obtaining serotonin levels when requested by the Projects.

该中心将负责处理大规模基因分型。 该核心将负责所有候选基因的高通量基因分型和遗传图谱。用于候选基因作图或关联研究的单个DNA样本的大规模基因分型主要使用TaqMan检测试剂盒结合ABI Prism 700 HT序列检测系统进行单核苷酸多态性（SNP）检测。在TaqMan不能令人满意地工作的那些情况下（5-10%），TaqMan基因分型测定将补充寡核苷酸连接测定（奥拉）。对于合并患者样本的高密度SNP频率作图，我们将使用引物延伸结合变性高效液相色谱（DHPLC）检测。PI和研究者将确定自闭症患者的生物采样，DNA库和基因分型。这些项目还将与该核心协商，确定哪些基因和SNPs需要进行基因分型。在新的SNP的情况下，基因型和等位基因频率数据将被数据库化并报告给研究界。对于特别感兴趣的基因，该核心将提供必要的DNA测序。它还将负责在项目提出要求时获得血清素水平。